Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
Autor: | Jurkute, Neringa, Cancellieri, Francesca, Pohl, Lisa, Li, Catherina H. Z., Heaton, Robert A., Reurink, Janine, Bellingham, James, Quinodoz, Mathieu, Yioti, Georgia, Stefaniotou, Maria, Weener, Marianna, Zuleger, Theresia, Haack, Tobias B., Stingl, Katarina, Genomics England Research Consortium, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F. |
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Zdroj: | NPJ Genomic Medicine; 10/20/2022, Vol. 7 Issue 1, p1-12, 12p |
Databáze: | Complementary Index |
Externí odkaz: |